More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Cathepsin-A Related Arteriopathy with Strokes And Leukoencephalopathy (CARASAL) is a rare genetic disorder that affects the blood vessels and brain. It is caused by mutations in the CTSA gene, leading to a deficiency in the enzyme cathepsin-A. CARASAL leads to progressive white matter brain damage (leukoencephalopathy), causing cognitive decline, motor impairments, and other neurological symptoms. As of now, there is limited understanding of the disease. Treatment mainly focuses on managing symptoms and providing supportive care to improve the individual’s quality of life.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Mutations in the gene CTSA cause CARASAL. The CTSA gene encodes the enzyme serine carboxypeptidase cathepsin-A which has many interactions and functions in the brain, including breakdown of a protein called endothelin-1. It is thought the increased amounts of endothelin-1 are responsible for the leucoencephalopathy.
Autosomal dominant: In autosomal dominant conditions, only one copy of the genetic mutation is needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. Someone with an autosomal dominant condition has one parent with a copy of the genetic mutation and the condition themselves. Therefore, someone with an autosomal dominant condition has a genetic mutation on one copy of the gene from their parent with the condition. Each child of a parent with the genetic mutation will have a 50% chance of having the condition and a 50% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
CARASAL is a condition in which the small blood vessels in the brain are progressively damaged in a way similar to CADASIL. CARASAL is much more rare than CADASIL and was only identified in 2016. Symptoms include young stroke, headaches and/or migraines, cognitive problems and increased muscle tone (spasticity). Severe hypertension can occur and should be managed aggressively to reduce the risk of progressive small vessel disease.
Learn more about specific symptoms of this leukodystrophy in these pages.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member are diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
We take great care in only selecting credible, useful links and resources, however we cannot be held responsible for the content of external websites or other sources.